A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183788



Internal ID20750828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20228666..20236951hg38UCSC Ensembl
chr13:20802805..20811090hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg388286
hg198286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487356
Supporting Variants
Samples
Known GenesGJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183788
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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